Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10428534" target="_blank" >RIV/00216208:11110/21:10428534 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/21:10428534
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=DUpXnc5tTg" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=DUpXnc5tTg</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10048-021-00637-6" target="_blank" >10.1007/s10048-021-00637-6</a>
Alternative languages
Result language
angličtina
Original language name
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
Original language description
Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without intellectual disability. We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novel CAMTA1 sequence variant. Furthermore, by identifying an additional, recurrent CAMTA1 sequence variant in an individual with a more typical neurodevelopmental disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV19-04-00233" target="_blank" >NV19-04-00233: Clinical, Imaging and Biological predictors of effects associated with deep brain stimulation in Parkinson’s disease</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurogenetics
ISSN
1364-6745
e-ISSN
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Volume of the periodical
22
Issue of the periodical within the volume
2
Country of publishing house
DE - GERMANY
Number of pages
5
Pages from-to
137-141
UT code for WoS article
000625752000001
EID of the result in the Scopus database
2-s2.0-85102309022